| Metadata | |
|---|---|
| ID | DOID:0051051 |
| Name | congenital disorder of glycosylation type IIw |
| Definition | A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. https://pubmed.ncbi.nlm.nih.gov/33964207/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |